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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/01/03 02:04:21」(JST)
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Recombination activating gene 1 |
Identifiers |
Symbols |
RAG1 ; RAG-1; RNF74 |
External IDs |
OMIM: 179615 HomoloGene: 387 GeneCards: RAG1 Gene |
Gene ontology |
Molecular function |
• DNA binding
• endonuclease activity
• ubiquitin-protein transferase activity
• protein binding
• zinc ion binding
• acid-amino acid ligase activity
• histone binding
• protein homodimerization activity
• sequence-specific DNA binding
• metal ion binding
|
Cellular component |
• nucleus
|
Biological process |
• adaptive immune response
• pre-B cell allelic exclusion
• DNA recombination
• immune response
• histone monoubiquitination
• B cell differentiation
• T cell differentiation in thymus
• V(D)J recombination
• T cell homeostasis
• negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
• regulation of T cell differentiation
• thymus development
• protein autoubiquitination
• negative regulation of thymocyte apoptotic process
• nucleic acid phosphodiester bond hydrolysis
|
Sources: Amigo / QuickGO |
|
Orthologs |
Species |
Human |
Mouse |
|
Entrez |
5896 |
19373 |
|
Ensembl |
ENSG00000166349 |
ENSMUSG00000061311 |
|
UniProt |
P15918 |
P15919 |
|
RefSeq (mRNA) |
NM_000448 |
NM_009019 |
|
RefSeq (protein) |
NP_000439 |
NP_033045 |
|
Location (UCSC) |
Chr 11:
36.53 – 36.61 Mb |
Chr 2:
101.64 – 101.65 Mb |
|
PubMed search |
[1] |
[2] |
|
|
Recombination activating gene 1 also known as RAG-1 is a protein that in humans is encoded by the RAG1 gene.[1]
The protein encoded by this gene is involved in activation of immunoglobulin V-D-J recombination. The encoded protein is involved in recognition of the DNA substrate, but stable binding and cleavage activity also requires RAG2. Defects in this gene can be the cause of several diseases.[1]
References
- ^ a b "Entrez Gene: Recombination activating gene 1".
UpToDate Contents
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English Journal
- Leapfrogging into new territory: How Mascarene ridged frogs diversified across Africa and Madagascar to maintain their ecological niche.
- Zimkus BM1, Lawson LP2, Barej MF3, Barratt CD4, Channing A5, Dash KM6, Dehling JM7, Du Preez L8, Gehring PS9, Greenbaum E10, Gvoždík V11, Harvey J12, Kielgast J13, Kusamba C14, Nagy ZT15, Pabijan M16, Penner J17, Rödel MO18, Vences M19, Lötters S20.
- Molecular phylogenetics and evolution.Mol Phylogenet Evol.2017 Jan;106:254-269. doi: 10.1016/j.ympev.2016.09.018. Epub 2016 Sep 21.
- The Mascarene ridged frog, Ptychadena mascareniensis, is a species complex that includes numerous lineages occurring mostly in humid savannas and open forests of mainland Africa, Madagascar, the Seychelles, and the Mascarene Islands. Sampling across this broad distribution presents an opportunity to
- PMID 27664344
- Adiponectin administration prevents weight gain and glycemic profile changes in diet-induced obese immune deficient Rag1-/- mice lacking mature lymphocytes.
- Liu X1, Perakakis N2, Gong H1, Chamberland JP3, Brinkoetter MT1, Hamnvik OR4, Mantzoros CS3.
- Metabolism: clinical and experimental.Metabolism.2016 Dec;65(12):1720-1730. doi: 10.1016/j.metabol.2016.09.003. Epub 2016 Sep 22.
- BACKGROUND: Obesity is associated with chronic low-grade inflammation leading to insulin resistance and diabetes. Adiponectin is an adipokine that regulates inflammatory responses. The aim of our study was to investigate whether any effects of adiponectin against obesity and insulin-resistance may d
- PMID 27832860
- The common mouse protozoa Tritrichomonas muris alters mucosal T cell homeostasis and colitis susceptibility.
- Escalante NK1, Lemire P2, Cruz Tleugabulova M1, Prescott D1,2, Mortha A3, Streutker CJ2, Girardin SE2, Philpott DJ4, Mallevaey T1.
- The Journal of experimental medicine.J Exp Med.2016 Nov 11. pii: jem.20161776. [Epub ahead of print]
- The mammalian gastrointestinal tract hosts a diverse community of microbes including bacteria, fungi, protozoa, helminths, and viruses. Through coevolution, mammals and these microbes have developed a symbiosis that is sustained through the host's continuous sensing of microbial factors and the gene
- PMID 27836928
Japanese Journal
- Molecular phylogenetic analysis of nuclear genes suggests a Cenozoic over-water dispersal origin for the Cuban solenodon
- Molecular phylogenetic analysis of nuclear genes suggests a Cenozoic over-water dispersal origin for the Cuban solenodon
- Hybrid origin of gynogenetic clones and the introgression of their mitochondrial genome into sexual diploids through meiotic hybridogenesis in the loach,Misgurnus anguillicuadatus
- Journal of Experimental Zoology Part A: Ecological Genetics and Physiology 323(9), 593-606, 2015-10-14
- NAID 120005849907
Related Links
- RAG1/RAG2異常症は、SCIDの代表例であり、特徴的な症状、検査所見を参考にしてできるだけ早期に診断することが重要です。特に、部分欠損症が示す多彩な臨床像については、十分に留意する必要があります。診断後は、合併する ...
- 組換え酵素であるRAG-1遺伝子を欠損しているため,T細胞やB細胞が成熟するために必須であるVDJ組換えができずに分化が阻害され,成熟したT細胞やB細胞が存在しない.
Related Pictures
★リンクテーブル★
[★]
- 英
- severe combined immunodeficiency SCID severe combined immune deficiency severe combined immunodeficiency disease
- 同
- リンパ球減少性低γグロブリン血症 lymphopenic hypogammaglobulinemia
- 関
- 免疫不全症候群
[show details]
- 関
定義
- T細胞の発生障害によるT細胞数の減少(CD4, CD8共に)と免疫グロブリン産生不全。
- SCID(すきっど)
- T細胞・B細胞の欠損・不全による免疫不全症の総称
SCIDに分類される疾患 (出典不明)
SCID (IMM.518)
Disease
|
Gene defect
|
Mechanism affected
|
Phenotype
|
T cell
|
B cell
|
NK cell
|
XSCID
|
IL-2 receptor γ chain(common gamma chain,)
|
Cytokine signaling
|
-
|
+
|
-
|
JAK3
|
-
|
+
|
-
|
IL-7 receptor
|
-
|
+
|
+
|
RAG deficiency Omenn syndrome
|
RAG1
|
Antigen receptor recombination
|
-
|
-
|
+
|
RAG2
|
-
|
-
|
+
|
Artemis
|
-
|
-
|
+
|
ADA deficiency
|
ADA
|
Metabolism
|
-
|
-
|
-
|
-
[★]
[★]
recombination-activating gene